Concepedia

Accurate classification of BRCA1 variants with saturation genome editing

Gregory M. Findlay, Riza M. Daza, Beth Martin, Melissa D. Zhang, Anh Leith, Molly Gasperini, Joseph D. Janizek, Xingfan Huang, Lea M. Starita, Jay Shendure

Nature · 2018 · 924 citations · 49 references

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49

Genome engineering using the CRISPR-Cas9 system

F. Ann Ran, Patrick D. Hsu, Jason Wright et al. · Nature Protocols · 2013 · 11.7K citations · Full text

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shikshya Shrestha, Steven M. Offer · Medical Epigenetics · 2016 · 9K citations · Full text

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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